Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs376903331
rs376903331
DNAH8 ; DNAH8-AS1
6 38926054 splice acceptor variant G/A;T snv 1.6E-05; 4.0E-06
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 1.000 1 2014 2014
dbSNP: rs776791493
rs776791493
DNAH8 ; DNAH8-AS1
6 38935698 splice donor variant G/A;T snv 1.2E-05; 2.5E-05
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 1.000 1 2014 2014
dbSNP: rs1223799853
rs1223799853
DNAH8 ; DNAH8-AS1
6 38906363 stop gained G/T snv 8.0E-06
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 0
dbSNP: rs1437893220
rs1437893220
DNAH8 ; DNAH8-AS1
6 38917951 stop gained G/A snv 7.0E-06
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 0
dbSNP: rs1554132747
rs1554132747
DNAH8 ; DNAH8-AS1
6 38907955 splice acceptor variant G/T snv
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 0
dbSNP: rs769929539
rs769929539
DNAH8 ; DNAH8-AS1
6 38938012 stop gained C/T snv 2.0E-05 2.8E-05
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 0